Treatment came too late for girls with Pompe disease

Saturday

Jan 23, 2010 at 12:01 AMJan 23, 2010 at 9:33 PM

Patti Conley

WEST HOMESTEAD — They’d met before, the Johnsons and the Kiecs, in another time, in another place — on April 3, 2000, in the intensive care unit at Children’s Hospital of Pittsburgh, where their daughters, Jasmine, 8 months, and Hannah, 9 months, lay side-by-side, both born with a rare genetic enzyme disorder that sapped strength from the muscles in their tiny bodies.

How horrible to learn from doctors that Pompe disease (pronounced pom-pay) would kill the infants in months, and that no cure, no drug, nothing could change that.

How odd that two babies born within six weeks and living within 15 miles of each other — the Johnsons in New Brighton, the Kiecs in Hopewell Township — had a fatal genetic flaw that happens once in every 40,000 births.

And, how sadly wonderful to have another mother, another father, nearby who understood the helplessness and who fiercely held on to hope with every breath their babies took.

On Tuesday evening, Melba and Foster Johnson and Anne and Lenny Kiec met at the AMC Loews Waterfront Theater in West Homestead for a screening of “Extraordinary Measures,” a movie starring Harrison Ford and Brendan Fraser.

The film, inspired by New Jersey couple John and Aileen Crowley, portrays the businessman’s relentless quest to raise millions of dollars and to fight medical, bureaucratic and corporate barriers, and time, to develop a drug that might save their children, Megan, now 13, and Patrick, now 11, from Pompe’s death sentence.

The Johnsons and the Kiecs, who networked with a tiny group of Pompe parents across the county, spoke to John Crowley on the phone several times back then, asking what to do, where to go, what drug researchers were working on.

They haven’t talked to him since.

Until Tuesday, the Johnsons and Kiecs hadn’t seen each other in nearly eight years, not since Jasmine’s funeral in May 2001, six months after the Kiecs buried Hannah.

blindsided

“We figured out real quick that he was the one to call,” Anne Kiec said days before the movie’s screening. “He was so knowledgeable, and he had the time and he was further ahead of us.”

The Crowleys learned early in 1998 that their two youngest children, 15-month-old Megan and 4-month-old Patrick, had a childhood form of Pompe. Doctors told them neither child was likely to celebrate a 10th birthday.

The diagnosis blindsided the Johnsons on Feb. 22, 2000. Forty days later, on April 3, doctors told the Kiecs that Hannah, like Jasmine, had the infantile form of Pompe disease, the most severe, and that she would probably die before her first birthday, most likely from cardiac arrest or respiratory failure.

“Take your baby home. Spend what little time you have enjoying them,” doctors told each couple.

With that precious time, they did what John Crowley did.

They educated themselves about Pompe disease and with family and friends scoured the Internet for information. Immediately, Anne and Melba quit their jobs.

They learned that each parent carried a recessive gene for Pompe. Chances were one in four that their biological child would have the disease.

And, they understood why, at 6 months, neither of their seemingly healthy daughters could hold her head up anymore. Jasmine had little strength in her legs. Hannah couldn’t sit up. She didn’t smile often.

That’s because people with Pompe disease, also called acid maltase deficiency, don’t produce an enzyme that breaks down glycogen, a sugar stored in the body’s muscle cells.

The glycogen builds up in the cells. The buildup weakens the muscles and enlarges the heart and liver. The muscles atrophy. At Children’s, the couples learned what they needed to do to keep their babies alive, then, at home, tiptoed through each day. Machines monitored the babies’ vital signs.

Anne worried that Hannah would need a ventilator. She and Lenny took turns flushing their daughter’s feeding tube with Sprite every two hours. Lenny became adept at unclogging it. Hannah loved baths, so Anne bathed her three times a day.

That spring, Melba took Jasmine for walks so she could see flowers and breathe fresh air. Within several months, Jasmine had a tracheotomy and needed a ventilator. Melba read the Bible out loud while Jasmine laid in her bed.

“She never sat up. She never rolled over. She never talked. She spoke with her eyes,” Melba said. They were “big brown eyes with eyelashes that went on forever.”

Hannah celebrated her first birthday on July 2. Six weeks later, on Aug. 14, Jasmine did the same.

The couples continued to search for a medical miracle. They learned that a Netherlands-based pharmaceutical company planned to begin human trials on an enzyme replacement therapy. The U.S. trial site would be at Duke University Medical Center in North Carolina. They prayed that their daughters would be chosen.

Anne sent videos of Hannah there. The Johnsons called. Soon, soon, they were told.

“I thought about driving Jasmine down to Duke and dropping her off,” Melba said. “Here she is. Do something.”

Summer became the fall of 2000. They couples couldn’t hurry the trials, nor could they stop time or the disease.

On Nov. 1, 2000, Hannah’s heart could no longer keep pace with the disease. She died peacefully in the hospital, a day shy of 16 months.

In mid-March 2001, a representative from Novazyme Pharmaceutical Inc. visited the Johnson home. She brought balloons, flowers and hope. Babies on ventilators could qualify for the enzyme trial. Perhaps Jasmine would be selected.

That hope ended on May 8, 2001, when Jasmine died peacefully in the hospital. Her heart held on for almost 21 months.

bittersweet ending

For 106 minutes, the Johnsons and Kiecs watched John Crowley’s extraordinary measures become the miracle Megan and Patrick needed.

They saw a frustrated Crowley quit his secure marketing job with a pharmaceutical giant to co-found a bio-tech company with researchers focused on producing a life-saving enzyme replacement medicine for Pompe disease.

He sold the growing company to Genzyme, a big bio-tech company, where he continued his efforts. Pristine scientific protocol and profitability were paramount to the company, no matter how much Crowley wanted to save his children.

That tension was palpable inside the theater until the happy ending came. Megan and Patrick received their first medicine on Jan. 9, 2003, two years too late for Jasmine and Hannah. The Food and Drug Administration approved the enzyme replacement for market in March 2006.

People left the theater, chatting. The Johnsons and Kiecs sat quietly until the seats were empty. In the lobby, they spoke.

“It makes you feel a little bitter,” a teary-eyed Anne said.

“Bittersweet,” Foster Johnson said. “It kind of goes both ways. We’re happy, but at the same time, it didn’t happen for us, for Hannah, for Jasmine.”

Happy, he said, because although the acting in the movie wasn’t great, the film will bring much needed attention to the disease

Hollywood took creative liberties, by compressing the timeline, creating a composite researcher played by Ford and making up events. A fictional scene in which Crowley attempted to steal locked-up vials of the enzyme seemed contrived.

The fathers understood Crowley’s desperation.

“We thought about doing the same thing,” Foster said.

The disease no longer dictates the Kiecs’ and Johnsons’ days. It still clouds them.

For five years, the Kiecs hosted an annual Hannah Bear charity golf tournament to raise money for Pompe disease and the Make-A-Wish Foundation. They stopped several years ago. Twice, Anne became pregnant. Both times, genetic tests showed the fetuses had Pompe disease, so they ended the pregnancies. They tried in-vitro fertilization and became pregnant with twins. That pregnancy failed.

They’re resolved about not having children, they said, content, working and going on with their lives.

Several years ago, the Johnsons moved their family to Moon Township. Desmond, who’ll soon turn 13, vaguely remembers Jasmine. Melba still includes her name on the family’s Christmas cards.

In that sad spring of 2001, the Johnsons put their faith in God and decided to have another child. Late that summer, a geneticist told the couple that the baby was a girl, that she didn’t have Pompe disease nor did she carry the recessive gene.

Nia is now 8 years old and in the second grade.

Their mother sees Jasmine in Nia’s face. And when she hugs her, she’s hugging Jasmine, too.

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